| H00477 | |
| H number | H00477 |
| Name | Pseudoachondroplasia |
| Description | Pseudoachondroplasia (PSACH) is a condition with short-limb, short stature, joint pain, and early-onset osteoarthrosis caused by epiphyseal ossification delay. PSACH is caused by mutations in COMP. |
| Category | Congenital malformation |
| Network | - |
| Gene | COMP [HSA:1311] [KO:K04659] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.60 ICD-10: Q77.8 MeSH: C535819 OMIM: 177170 |
| Reference | PMID:11891674 AUTHORS Unger S, Hecht JT TITLE Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. JOURNAL Am J Med Genet 106:244-50 (2001) DOI:10.1002/ajmg.10234 PMID:15094116 AUTHORS Posey KL, Hayes E, Haynes R, Hecht JT TITLE Role of TSP-5/COMP in pseudoachondroplasia. JOURNAL Int J Biochem Cell Biol 36:1005-12 (2004) DOI:10.1016/j.biocel.2004.01.011 |